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. 1996 Jun;33(6):507–510. doi: 10.1136/jmg.33.6.507

Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.

J Ignatius 1, S Knuutila 1, S W Scherer 1, B Trask 1, J Kere 1
PMCID: PMC1050639  PMID: 8782053

Abstract

Split hand/split foot malformation (SHSF) has been described in several patients associated with cytogenetically visible rearrangements involving chromosome 7q. Characterisation of these patients has led to localisation of an autosomal dominant form of SHSF to 7q21-22; the locus has been designated SHFM1. We describe a patient with a complex, apparently balanced cytogenetic rearrangement, including a translocation breakpoint at 7q21.3 near the DSS1 gene. In addition to ectrodactyly of all four limbs, the patient has congenital deafness, submucous cleft palate, microcephaly, and mental retardation. This patient represents an additional case of syndromic ectrodactyly related to the SHFM1 gene region, which may be responsible for both syndromic and non-syndromic ectrodactyly.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Akita S., Kuratomi H., Abe K., Harada N., Mukae N., Niikawa N. EC syndrome in a girl with paracentric inversion (7)(q22.1;q36.3). Clin Dysmorphol. 1993 Jan;2(1):62–67. [PubMed] [Google Scholar]
  2. Cobben J. M., Verheij J. B., Eisma W. H., Robinson P. H., Zwierstra R. P., Leegte B., Castedo S. Bilateral split hand/foot malformation and inv(7)(p22q21.3). J Med Genet. 1995 May;32(5):375–378. doi: 10.1136/jmg.32.5.375. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Cremer T., Landegent J., Brückner A., Scholl H. P., Schardin M., Hager H. D., Devilee P., Pearson P., van der Ploeg M. Detection of chromosome aberrations in the human interphase nucleus by visualization of specific target DNAs with radioactive and non-radioactive in situ hybridization techniques: diagnosis of trisomy 18 with probe L1.84. Hum Genet. 1986 Dec;74(4):346–352. doi: 10.1007/BF00280484. [DOI] [PubMed] [Google Scholar]
  4. Del Porto G., D'Alessandro E., De Matteis C., Lo Re M. L., Ivaldi M., Di Fusco C. Delezione interstiziale del braccio lungo del cromosoma 7 e sue correlazioni cliniche. Pathologica. 1983;75 (Suppl):268–271. [PubMed] [Google Scholar]
  5. Faiyaz ul Haque M., Uhlhaas S., Knapp M., Schüler H., Friedl W., Ahmad M., Propping P. Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26-q26.1. Hum Genet. 1993 Mar;91(1):17–19. doi: 10.1007/BF00230215. [DOI] [PubMed] [Google Scholar]
  6. Genuardi M., Pomponi M. G., Sammito V., Bellussi A., Zollino M., Neri G. Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1. Am J Med Genet. 1993 Nov 1;47(6):823–831. doi: 10.1002/ajmg.1320470606. [DOI] [PubMed] [Google Scholar]
  7. Gurrieri F., Genuardi M., Chiurazzi P., Gillessen-Kaesbach G., Neri G. Exclusion of linkage between autosomal dominant split hand/split foot and markers from chromosome 7q: further evidence for genetic heterogeneity. Am J Hum Genet. 1994 Oct;55(4):853–855. [PMC free article] [PubMed] [Google Scholar]
  8. Koiffmann C. P., Wajntal A., de Souza D. H., Gonzalez C. H., Coates M. V. Human situs determination and chromosome constitution 46,XY,ins(7;8)(q22;q12q24) Am J Med Genet. 1993 Sep 15;47(4):568–569. doi: 10.1002/ajmg.1320470426. [DOI] [PubMed] [Google Scholar]
  9. Marinoni J. C., Stevenson R. E., Evans J. P., Geshuri D., Phelan M. C., Schwartz C. E. Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1. Clin Genet. 1995 Feb;47(2):90–95. doi: 10.1111/j.1399-0004.1995.tb03930.x. [DOI] [PubMed] [Google Scholar]
  10. Morey M. A., Higgins R. R. Ectro-amelia syndrome associated with an interstitial deletion of 7q. Am J Med Genet. 1990 Jan;35(1):95–99. doi: 10.1002/ajmg.1320350118. [DOI] [PubMed] [Google Scholar]
  11. Naritomi K., Izumikawa Y., Tohma T., Hirayama K. Inverted insertion of chromosome 7q and ectrodactyly. Am J Med Genet. 1993 Jun 15;46(5):492–493. doi: 10.1002/ajmg.1320460505. [DOI] [PubMed] [Google Scholar]
  12. Nunes M. E., Pagon R. A., Disteche C. J., Evans J. P. A contiguous gene deletion syndrome at 7q21-q22 and implications for a relationship between isolated ectrodactyly and syndromic ectrodactyly. Clin Dysmorphol. 1994 Oct;3(4):277–286. [PubMed] [Google Scholar]
  13. Pfeiffer R. A. Interstitial deletion of a chromosome 7 (q11.2q22.1) in a child with splithand/splitfoot malformation. Ann Genet. 1984;27(1):45–48. [PubMed] [Google Scholar]
  14. Rivera H., Sanchez-Corona J., Burgos-Fuentes V. R., Melendez-Ruiz M. J. Deletion of 7q22 and ectrodactyly. Genet Couns. 1991;2(1):27–31. [PubMed] [Google Scholar]
  15. Roberts S. H., Hughes H. E., Davies S. J., Meredith A. L. Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3. J Med Genet. 1991 Jul;28(7):479–481. doi: 10.1136/jmg.28.7.479. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Scherer S. W., Poorkaj P., Allen T., Kim J., Geshuri D., Nunes M., Soder S., Stephens K., Pagon R. A., Patton M. A. Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1. Am J Hum Genet. 1994 Jul;55(1):12–20. [PMC free article] [PubMed] [Google Scholar]
  17. Scherer S. W., Poorkaj P., Massa H., Soder S., Allen T., Nunes M., Geshuri D., Wong E., Belloni E., Little S. Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly. Hum Mol Genet. 1994 Aug;3(8):1345–1354. doi: 10.1093/hmg/3.8.1345. [DOI] [PubMed] [Google Scholar]
  18. Sharland M., Patton M. A., Hill L. Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2. Am J Med Genet. 1991 Jun 15;39(4):413–414. doi: 10.1002/ajmg.1320390410. [DOI] [PubMed] [Google Scholar]
  19. Tajara E. H., Varella-Garcia M., Gusson A. C. Interstitial long-arm deletion of chromosome 7 and ectrodactyly. Am J Med Genet. 1989 Feb;32(2):192–194. doi: 10.1002/ajmg.1320320212. [DOI] [PubMed] [Google Scholar]

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